Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
rs80358683 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 5 | |||
rs886040456 | 0.882 | 0.200 | 13 | 32337325 | frameshift variant | AACAAATGGGCAG/- | delins | 3 |